Chronic granulomatous disease: A multicenter study from the MENA region

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Chronic granulomatous disease (CGD) is a primary immunodeficiency affecting phagocyte function.
• The Middle East and North Africa (MENA) region presents unique epidemiological characteristics for rare genetic disorders.
• Understanding CGD's burden in the MENA region is vital for targeted healthcare strategies.

Purpose of the Study:

• To comprehensively investigate the clinical spectrum, infectious agents, and outcomes of CGD patients in the MENA region.
• To determine the genetic basis and inheritance patterns of CGD within this population.
• To assess mortality and survival rates to inform clinical management and public health initiatives.

Main Methods:

• A retrospective, multicenter study involving 322 patients diagnosed with CGD.
• Data collection included clinical features, infection types, causative microorganisms, management strategies, and survival data.
• Genetic analysis was performed to identify inheritance patterns (autosomal recessive vs. X-linked).

Main Results:

• Pneumonia (58.0%), lymphadenitis (49.1%), and skin infections were most frequent. *Staphylococcus* and *Aspergillus* spp. were common pathogens.
• Autosomal recessive inheritance was predominant (84.3%) over X-linked (15.7%).
• Median survival was 8.5 years, with an estimated 10-year survival rate of 77.3%.

Conclusions:

• CGD poses a substantial health challenge in the MENA region, characterized by specific infectious profiles and genetic predispositions.
• Early diagnosis through molecular/genetic testing is essential for timely intervention.
• Improving access to hematopoietic stem cell transplantation (HSCT) can significantly enhance patient survival and quality of life.